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IFT88
Intraflagellar transport protein 88 homolog is a protein that in humans is encoded by the ''IFT88'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8100 )〕 == Function ==
This gene encodes a member of the tetratrico peptide repeat (TPR) family. Mutations of a similar gene in mouse can cause polycystic kidney disease. Two transcript variants encoding distinct isoforms have been identified for this gene.〔 In 2012 a mutation was found to be responsible for a novel form of ciliopathy and anosmia in humans capable of remedy in mice by adenoviral mediated gene therapy.〔(Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model )〕
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「IFT88」の詳細全文を読む
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